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Morgan's Diagnoses

(I apologize for the length, her story is complicated and
contains many parts)

My belly
was measuring a little big so my OB ordered an ultrasound to check Morgan's
size. We were unprepared for what they discovered. Morgan had fluid around her
lungs and I had a large amount of amniotic fluid in my uterus, which explained
why I measured so big. Our girl was in trouble. The next few hours were
critical. The Ultrasound tech went to fetch my OB. She met us in the ultrasound
room within minutes. She was sending us up to IMC that afternoon.

Our
appointment was with Dr. Richardson at Maternal Fetal Medicine in Intermountain
Medical Center. We had another ultrasound which lasted for about an hour. The
tech looked at everything, measured everything, paying very closed attention to
the heart and lungs. She checked circulation in the brain. All the while,
Morgan moved and kicked. I tried to take heart from my girls activity. When the
tech was done, we waited for what seemed like a very long time. Then Dr.
Richardson arrived and the ultrasound resumed for another 30 minutes. There was
silence with only a few question aimed at me. Questions like, "You have a
lot of fluid in there, do you have trouble breathing at all?"
"No". "Have you noticed any differences in the pregnancy between
this one and with your son?" "No." "Have you noticed any
difference in the baby's activity, her kicks?" "No." I replied.
More silence. I tried to follow what he was looking at. Most of the time he
zoomed in so close that I couldn't begin to guess. The tension in the room was
unbearable. My level of stress and nervousness seemed crushing. I didn't know
what questions to ask. Neither did Danny. My only thought was, will she be ok?

Dr. Richardson
finally finished the ultrasound. Told us to wait. He left the room. Danny and I
waited for about an hour. It was interminable. I paced. I could not keep still.
I was angry and felt as though everyone had lost their mind. That Morgan was
STRONG. More times than not, she kept me awake at night with her activities in
my womb. That everyone was underestimating her. I was angry. And scared. Mostly
scared. With nothing to say, Danny and I spoke very little.

When Dr.
Richardson came back, he had pen and paper and began drawing a diagram for us.
"This is what a baby's chest cavity is supposed to look like." He
began. He drew us a diagram of a healthy baby's chest with lungs and heart. "This
is what your baby's chest cavity looks like." and he drew a chest with a
heart, a small looking ball on the right and one a little smaller on the left,
and a lot of black space. Morgan's lungs were compressed and squeezed into tiny
balls. He told us that there were three possible causes. And he wrote them down
in the order of probability at my request.

1.
Chylothorax

2.
Hydrops Fetalis

3.
Down's Syndrome

He then
explained that this sort of thing took weeks, sometimes months to resolve with
the baby needing to be in the NICU. That she would need tubes inserted in
between her ribs to drain off the fluid. Then he went on to say that we could
get her out now or wait. Waiting would let her grow more but there was a chance
she could be a still birth. My Heart stopped when those two words were
uttered. Still birth. Then he
said that she would be pre-term if we got her out now but we would know she is
alive. Danny said he wanted her out. He was haunted by something Kyle said earlier
as we left our OBs' office. "Baby is dying." He had said. I knew that
if I submitted to the growing panic and dread growing inside me that I wasn't
going to make it through this. I told Dr. Richardson that I wanted to know
more. He seemed a little at a loss. He could not tell us with any certainty if
we should wait a little while or get her out now. Unsure of the best course of
action, Dr. Richardson said he would consult his colleagues and call us with a
plan in the morning.

At about
8:00 in the morning I got the call. He had consulted his colleagues and all
were in agreement that she needed to come out as soon as possible. He told me
that I needed a steroid injection for two days starting that morning. Then
after the steroid injections had a chance to take effect, I would check in at the University Hospital
to be induced. They had a NICU equipped the handle Morgan's case and she was
close to Primary Children's Hospital should she need to be transferred later on.
So we followed the plan, I had the steroid injections, and that Friday evening, I
was induced.

It took
26 hours to get her here. She was born on Sunday, April 6.

I was
unable to hold her. There was no time. She couldn't breathe. As soon as the
umbilical cord was cut, she was passed through an open window to the NICU where
a team of doctors and nurses were ready for her. Time slowed down. Danny sat in
the silence as we waited to learn if they got her on the respirator. If she was
breathing. We waited. I couldn't stop crying. I stared at the window. Nothing
in the world existed, only that window and the news that would come from it. I
was scared to death. I only got a glimpse of her. I could not hold her and see
what she looked like. I could not nurse her. I could not look into her eyes and
welcome her to the world. She was unable to nurse. She was unable to breathe
for herself. Then a nurse came to the window. There was no Apgar score.
"We got her intubated. She's stable." She was successfully put on a respirator. She was born 7lb, 3oz and 19 inches long. She was safe. I was
exhausted and could no longer keep my eyes open. The labor was difficult and
they were close to having me in for an emergency c-section. I was grateful they
didn't need to. I was at high risk for hemorrhaging. I didn't care. I just
wanted to be strong enough to get to her. Five hours later, after they
performed the procedure to insert tubes on her right and left side to drain the
fluid from around her lungs, a nurse wheeled me in to see her. With Danny by my
side, I looked at my baby girl. I tried not to cry, but failed. She had so many
tubes and sensors hooked up to her. The respirator made a lot of noise as it
breathed for her. After the fluid was drained off her lungs, she weighed 6lb,
2oz.

They ran
test after test and was unable to determine the cause. They told us they
thought she had Chylothorax. They told us she had pulmonary hypertention and a
VSD, a hole in her heart. A Geneticist came by to examine her and felt there
was no need for Genetic testing. She looked like a perfect baby girl. We
absorbed all this the best we could. In the shell-shocked way I imagine people
do in life or death situations. Then the news came. The thing is, no one knew
if her lungs had a chance to develop in the womb before being pushed in by the
fluid. Or if the fluid appeared before her lungs could develop... "Her
lungs are fully developed." I felt the first glimmer of hope the moment
our Neonatologist, Dr. Null told us this. She could pull through this. I
needed her to pull through.

Thursday
night was the hardest night. There were many. But that Thursday, only a few
days after her birth was the worst of them. We thought we might lose her. One of
her chest tubes came out and the fluid was building up quickly, pushing her lung closed. She couldn't breathe
well. She was struggling. I will never forget. She arched her back. She wasn't
getting enough air. She was not on the respirator. She had been extubated,
taken off the respirator the day before. She needed a new chest tube. We waited
as the procedure was done. And at 2:00 in the morning, a nurse finally came to
get us. She told us that everything had gone well. That Morgan was stable. She
was asleep and looked comfortable in comparison to how we had seen her hours
earlier. Completely spent, we went home and right to bed. Only to be awakened about
an hour later. I came instantly awake as my cell phone rang. "Hello?"
It was Morgan's nurse. I was then informed that Morgan had stopped breathing
and had to be re-intubated. Sleep proved to be impossible after that. I didn't
know it at the time, but Morgan would need to have four more "Chest Tube
Procedures" over the course of the next six weeks before making a turn for
the better.

Morgan
was transferred to Primary Children's Hospital on April 19. After about two
weeks of being at the University Hospital. I was nervous about the transfer but
it turned out to be the best thing for her. Once we got settled in our new
place, things began to happen. Our Neonatologist, Dr. Malleske, was energetic
and easy to talk to. He went at Morgan's case like she was a puzzle he was
dying to solve. He ordered blood work up for her immune system since she lost
and was continuing to loose, great amounts of lymphatic fluid. His first
concern was making sure she could fight off infection. He then ordered a CT
scan of her chest. He also ordered, despite the Geneticist not seeing a need
to, a Chromosome Analysis and DNA Micro Array test. He said to me, "I want to spend
a whole bunch of your money to rule out a whole bunch of scary things." Of
course I said yes. It felt good seeing the actions taken to figure out a way to
help Morgan. The U did a good job as well. She was on an experimental
medication called Octreotide, but there wasn't much improvement while she was on
it.

Then the
CT Scan came back. Dr. Malleske had been talking to some doctors in Boston who
had seen this kind of thing before. And the diagnosis was made. Congenital Pulmonary
Lymphangiectasia.

"Congenital
pulmonary lymphangiectasia (CPL) is a rare developmental disorder that is
present at birth (congenital). Affected infants have abnormally widened
(dilated) lymphatic vessels within the lungs. The lymphatic system
helps the immune system in protecting the body against infection and disease.
It consists of a network of tubular channels (lymph vessels) that drain a thin
watery fluid known as lymph from different areas of the body into the
bloodstream. Lymph accumulates in the tiny spaces between tissue cells and
contains proteins, fats, and certain white blood cells known as
lymphocytes." -WebMD

Dr.
Malleske came to us with a plan to try her on an experimental medication to
help her. Sildenafil, or Viagra, would be giving to her in rather large doses.
Sildenafil is used to treat pulmonary hypertension in premature infants. And of
course, for erectile dysfunction. The whole idea behind it (mind you, I'm not a
doctor and this is how I understood it when explained) is that it affects the
soft tissue lining Morgan's lungs the same way it affects the arterial wall in
pulmonary hypertension. I didn't really care how it worked. As long as it
worked. Surgery would be the only other option and the doctors were reluctant
to go that route. And after hearing what surgery would entail, I was reluctant
to go that route. "Not without its risks." translated to me that
there was a possibility she wouldn't survive or if she did there would be
problems later. So, Sildenafil being the least invasive method to treat Morgan,
I gave my consent, and her treatment began on April 24.

Second Diagnoses

Our days
settled into a routine. In the morning, I would drop Kyle off at Grandpa and
Grandma's, drive to the hospital where I would meet with and listen to the
doctors and nurses, spend the rest of the morning with Morgan, and then pick up
Kyle for lunch. I tried to keep things as normal for him as possible. After
dinner and bedtime, my sister or Grandpa would come over to keep an eye on things while
Danny and I drove up to see Morgan and say goodnight to her. Often, we wouldn't
get home till midnight or later. In the
morning, I always tried to get to the hospital before the doctors did their
"rounding." That's when the whole team would meet to discuss a
patient and come up with a plan of care for the day. The team usually consisted
the attending doctor, RN, Morgan's nurse, the Respiratory Therapist, the
Pharmacy Tech, and two other people whose job I never did catch. During
rounding they would go over every aspect of Morgan such as how much chest fluid
came out in the last 24 hours, oxygen levels, white blood cell count,
nutrition, medications and many other details of which I couldn't keep track.
It was during such a rounding that they added toward the end, "Oh, and the
Chromosome Analysis came back and there is an abnormal marker." As soon as
I heard this my whole body snapped to full attention and I was a little confused.

"Abnormal
marker?" I asked, "what does that mean?" The attending doctor
shrugged and said "I don't know the answer to that one. We will have the
Geneticist call you."

I
received a call later that afternoon from the Geneticist. He was very soft
spoken and I had to hide from the wild Kyle to hear him. "You wanted to
ask me some questions?" "Yes, about Morgan Marcario. Her Chromosome Analysis came back and there is an abnormal marker? What does that mean?" He
went on to explain that an abnormal chromosome marker could have clinical
significance or no clinical significance, depended on what genes the chromosome
marker contained. We wouldn't know that until the DNA Micro Array came back.
"When will that come back." In about a week. Please let it come back
as nothing to worry about.

Waiting
for the results on that one was difficult. I found myself wishing that they had waited to give both results together instead of sitting on pins and needles for the final result. Finally the day came and I got
another call from the Geneticist on Friday morning, May 9, 2014. A date which is now burned into my brain. I answered and
my mind exploded. "Can we meet bedside today?" He asked.
"Yes." We arranged a time and I hung up. I couldn't think of a thing
to ask. He wouldn't want to meet us if it were good news. I told Danny he wanted
to meet. I could see the same emotions I was experiencing play on his face.
11:00am, We would both be there.

I was
glad that it was Friday. On Fridays, my Dad would watch Kyle while my Mom would
take off from work to drive me to the hospital to give me a break and so she
could see her Granddaughter. I was grateful for her company. I felt the need to
have as many people around me as possible. We arrived at the hospital a few
minutes before 11:00am. Susan, Morgan's primary nurse, met us in the hall.
"The Geneticist is here, he had to take a quick phone call and will be
with us shortly. I got a family room for you to meet in so you can talk."
She then asked if it was alright with me if she could be there to hear what he
had to say. "You are welcome to sit and listen." I said, "Also, please ask questions
if you like." I wanted as many people there as possible.

Led by
Susan, we all shuffled into the family room, which was right across the hall
from the room where Morgan was staying with four other babies. There was a blue
couch that folded out into a bed along the wall on the left side of the room.
There was a hospital glider angled next to the couch, and a few chairs facing
the couch on the opposite side of the room. There was a small bathroom in the
far corner and a small window letting in the morning light at the end of the
room. The room was well used, where countless families have come and gone. Some
slept in this room with their NICU baby in preparation for going home.

My Mom
and I sat on the couch while Susan took the glider. We had just sat down when Danny
entered the room. He took a chair. We were all there. We waited. The room was
tense, but everyone chatted a little to try to lighten things up. Then we all
fell silent as the Geneticist walked into the room.

Dr.
Botto, the soft-spoken man, came in with a colleague following behind him. In
his hands he carried a stack of papers. I could not take my eyes from them. He wouldn't be carrying so many papers if
the results meant nothing. He introduced his colleague whose name I don't
even remember, and sat down directly across from me. I leaned forward. Dr.
Botto began to speak. "Your daughter is very beautiful, very cute."
"Thank you." And now the
results please. "Your daughter has a very rare but well documented
syndrome." As he spoke, he began handing me a paper showing her
chromosomes. My God, they found
something.

The
world tilted. Everything began to move sideways. Gravity was changing and I had
this crazy image of all of us sliding, furniture and all, towards and out the
window, like some scene from the movie Inception. Crazy. I know. But no crazier
than what the doctor was saying about my daughter. Focus. Pay attention to what he is saying. You have to absorb all of
it. You have to know for Morgan's sake.

I forced
myself to focus on every word the doctor said and all the information he handed
me. "Your daughter has Isodicentric 15 Syndrome or Idic 15 Syndrome."
He then explained that she has a partial, inverted copy of the q arm of
chromosome 15. That most who have this syndrome have hypotonia - low muscle
tone. Developmental delays and sometimes learning disabilities; she would take
longer to walk and longer to talk. Autism and Sensory Processing Disorders are
common and that about 50 percent of kids affected with this will have Epilepsy.
The symptoms vary greatly from person to person. When he was finished, there
was a long silence.

Then the
questions began.

"Okay,
she will take longer to walk and talk, but she will be able to walk and talk?" Danny asked. "Yes, she will need Early Intervention but yes, anything is
possible." Replied Dr. Botto. My Mom asked, "Would she be able to go to school, socialize like
other kids?" "With Early Intervention, anything is possible."
Said Dr. Botto. More questions were asked, most with the answer "I don't
know." Early Intervention was the reoccurring theme. Even Susan asked a
few questions. "So, she may have seizures?" I asked. "Yes."
"And they can be controlled by medication?" "Yes, you will need
to work with a Neurologist, but yes." Replied Dr. Botto. "Was this
something that she got from either of us? Is this something we gave to
her?" Ask Danny. "Most of the time, this
is something that occurs randomly." Replied Dr. Botto. He went on to explain that
sometimes, one of the parents can have just the tip of chromosome 15 duplicated
and that is harmless, but then their kids would be more likely to inherit Idic
15 syndrome. But most of the time it is random. But if Morgan were to ever have
children, they were likely to inherit the syndrome. She won't be able to have children. It was at that moment that
tears began to come. I stopped them. You
don't know that, don't jump to conclusions. The conversation continued.
Speculations were made. Then Danny asked the question, "Is this what
caused here Congenital Pulmonary Lymphangiectasia?" "It may have
something to do with it, it may not." So
they don't know that either. The room became silent. All of us trying to
absorb this impossible information. I had one more question. A hard question. "Will this affect her
lifespan?" Slight pause. "No. But I'm obligated to tell you that there is a rare
phenomenon of seemingly healthy kids with this syndrome dying suddenly in their sleep.
We don't know what causes it. Research is being done on it. Again, it is rare,
but you should know about it." He replied. The room was silent again.
There were no more questions. Dr. Botto told us that if we thought of more
questions to have the hospital contact him and that he wanted to follow-up with
Morgan in a year. He again said how beautiful she was, and with his colleague,
took his leave.

We all
sat stunned for a while. We spoke a little. We were glad we had the results.
Glad we had answers. But I was very wary. My thoughts were a little chaotic. One thought coming in and another leaving simultaneously. All the while trying to accept the reality of the situation. Feeling very shaken and a little ill, one thought stood out and stuck. She
will have to contend with this for the rest of her life. And just like that, the images of my daughter overcoming what she was going through in the hospital
and coming home to grow into a healthy, average kid, disappeared.

We
grieved. It took days for the diagnosis to sink in. We could handle no more. No
more bad news. No more tests. We reached our limit to cope. Then, a miracle.

I came
in to see her. I was on my normal schedule and was headed for the sink to
scrub-up before seeing her. I saw her doctor from The University of Utah
hospital in the hall on my way to see Morgan. I spoke briefly to him before going in. I sensed a
difference in the atmosphere. What was it? Excitement. The staff, the nurses,
the attending doctor. Everyone seemed uplifted. Morgan's chest tube output
dropped in half!

Every
two days her output dropped in half until it was nothing. within a week, her
tubes were out and they were increasing her feeds. The medication worked. We still had a long way to
go before she was sent home. She had to learn how to eat. She had to learn how
to be an ordinary baby.

1 comment:

Powerful story, and connects so much with ours. My son has partial 15 duplication sq 23 and a full extra X chromosome. I LOVED reading your story thank you, I felt as though I was reading my own feelings when our family received the diagnosis x